Implementing Universal Lynch Syndrome Screening across Multiple Healthcare Systems: Identifying Strategies to Facilitate and Maintain Programs in Different Organizational Contexts

项目摘要/摘要 林奇综合征(LS)是遗传性结直肠癌风险的最常见形式。具有以下特征的人 林奇综合征还增加了子宫内膜、卵巢、胃、小肠和 肾癌。重要的是，有强有力证据的完善的临床指南存在 LS患者的癌症治疗、筛查和预防。个人的身份识别 LS是通过各种技术完成的，包括家族史和病史 评估、计算模型或肿瘤测试。所有结直肠癌的系统筛查 LS肿瘤是由遗传学应用评估在实践中首次推荐的，并 预防(EGAPP)工作组，并被指定为高度优先事项 国家科学院、工程院和医学工作组和蓝色 功能区面板。对公众健康的潜在影响，以降低癌症发病率和死亡率 干预措施支持这一优先事项，因为有效实施LS筛查将有助于满足 癌症登月计划的目标以及展示精准医学的前景。 目前，在医疗保健系统中实施LS筛查对于 原因多种多样。LS筛查涉及多个部门的协调和 整个组织中的个人，这在大型、复杂的医疗系统中通常是困难的。 因此，该项目的总体目标是利用实施科学的工具来 描述、解释和比较LS筛查中的决策制定和其他变化 跨多个医疗保健系统实施以在真实环境中创建和评估 组织工具包，以促进LS筛查的实施。我们的具体目标是(1) 描述在多个医疗保健系统中实施LS筛查的差异；然后(2) 解释实践差异并确定与最佳实施相关的因素；以及(3) 通过以下方式确定不同LS筛查方案的相对有效性、效率和成本 医疗保健系统；以及最后(4)在自然环境中开发和测试组织 LS筛查工具包。该工具包将使LS筛查得以有效实施 计划；最终防止患者及其家人遭受不必要的痛苦 可预防的癌症，减少医疗系统成本的浪费，以及为 促进精准医疗的承诺。

Project Summary/Abstract Lynch syndrome (LS) is the most common form of inherited colorectal cancer risk. People with Lynch syndrome are also at increased risk for endometrial, ovarian, gastric, small bowel, and renal cancers. Importantly, well-established clinical guidelines with strong evidence exist for cancer treatment, screening, and prevention in individuals with LS. Identification of individuals with LS is accomplished through a variety of techniques, including family and medical history evaluation, computational models, or tumor testing. The systematic screening of all colorectal tumors for LS was first recommended by the Evaluation of Genetic Application in Practice and Prevention (EGAPP) working group in 2009 and has been designated high priority by the National Academies of Science, Engineering, and Medicine working group and by the Blue Ribbon Panel. The potential public health impact to reduce cancer morbidity and mortality of this intervention supports this priority, as effective implementation of LS screening will help meet the goals of the Cancer Moonshot as well as demonstrate the promise of precision medicine. Currently, implementation of LS screening in healthcare systems remains suboptimal for a variety of reasons. LS screening involves the coordination of multiple departments and individuals across an organization, which is often difficult in large, complex, healthcare systems. Therefore, the overarching goal of this project is to utilize tools from implementation science to describe, explain, and compare decision making and other variations in LS screening implementation across multiple healthcare systems to create and evaluate in a real world setting an organizational toolkit to facilitate implementation of LS screening. Our specific aims are to (1) Describe variation in LS screening implementation across multiple healthcare systems; then (2) Explain practice variation and determine factors associated with optimal implementation; and (3) Determine the relative effectiveness, efficiency, and costs of different LS screening protocols by healthcare system; and finally to (4) Develop and test in a natural environment an organizational toolkit for LS screening. This toolkit will enable effective implementation of LS screening programs; ultimately preventing needless suffering of patients and their family members from preventable cancers, decreasing waste in healthcare system costs, and informing strategies to facilitate the promise of precision medicine.